A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771170



Internal ID2133389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82985562..83049979hg38UCSC Ensembl
chr17:80943438..81007855hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3864418
hg1964418
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641445
Supporting Variants
SamplesHG01936
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771170
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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